Pelvis-shoulder dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: kosenow syndrome
scapuloiliac dysostosis
Number of Symptoms 41
OrphanetNr: 2839
OMIM Id: 169550
ICD-10: Q87.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndrome with limb reduction defects
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
2
 (HPO:0000568) Microphthalmia 183 / 7739
3
 (HPO:0000171) Microglossia Occasional [Orphanet] 27 / 7739
4
 (HPO:0000581) Blepharophimosis Frequent [Orphanet] 197 / 7739
5
 (HPO:0000481) Abnormality of the cornea Occasional [Orphanet] 124 / 7739
6
 (HPO:0000615) Abnormality of the pupil Occasional [Orphanet] 39 / 7739
7
 (HPO:0000482) Microcornea Occasional [Orphanet] 102 / 7739
8
 (HPO:0000612) Iris coloboma Occasional [Orphanet] 116 / 7739
9
 (HPO:0000588) Optic nerve coloboma 27 / 7739
10
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
11
 (HPO:0007957) Corneal opacity 84 / 7739
12
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
13
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
14
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
15
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
16
 (HPO:0000946) Hypoplastic ilia 21 / 7739
17
 (HPO:0003307) Hyperlordosis Frequent [Orphanet] 122 / 7739
18
 (HPO:0003042) Elbow dislocation Frequent [Orphanet] 89 / 7739
19
 (HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
20
 (HPO:0002991) Abnormality of the fibula Frequent [Orphanet] 49 / 7739
21
 (HPO:0001374) Congenital hip dislocation 51 / 7739
22
 (HPO:0001770) Toe syndactyly Frequent [Orphanet] 149 / 7739
23
 (HPO:0006660) Aplastic clavicles Frequent [Orphanet] 70 / 7739
24
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
25
 (HPO:0000772) Abnormality of the ribs Occasional [Orphanet] 146 / 7739
26
 (HPO:0003274) Hypoplastic acetabulae 7 / 7739
27
 (HPO:0001762) Talipes equinovarus Frequent [Orphanet] 309 / 7739
28
 (HPO:0000882) Hypoplastic scapulae 28 / 7739
29
 (HPO:0002938) Lumbar hyperlordosis 73 / 7739
30
 (HPO:0003298) Spina bifida occulta 67 / 7739
31
 (HPO:0000912) Sprengel anomaly Very frequent [Orphanet] 51 / 7739
32
 (HPO:0000894) Short clavicles 30 / 7739
33
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
34
 (HPO:0004279) Short palm Occasional [Orphanet] 323 / 7739
35
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
36
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
37
 (OMIM) Absent twelfth rib 2 / 7739
38
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
39
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
40
 (OMIM) Small first ribs 1 / 7739
41
 (OMIM) Ectopic pupil 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kosenow et al. (1970) described 2 girls, each an illegitimate child without sibs, who showed marked hypoplasia of the scapulas and pelvis and hypoplasia of the clavicles. Associated malformations included eye anomalies, such as ectopic pupil, rib anomalies ...